A 1 0-year-old boy was admitted to our hospital with complaints of headache and diplopia. On physical examination, he weighed 40 kg (7590p), with a height of 142 cm (50-75p). His brachial blood pressure was 150/120 mmHg (95th percentile 123/81 mmHg). His mother had been operated for bilateral pheochromocytoma at the age of 23 and had not been under medical follow-up since then. Laboratory tests showed elevated 24-hour (h) urinary vanillylmandelic acid (VMA) (40 mg/day; normal value 1-11) and normetanephrine (>2000 µg/day), but normal metanephrine levels (143 µg/day). Abdominal magnetic resonance imaging (MRI) indicated the presence of multiple lesions in perivascular areas neighboring both adrenal glands. An iodine 123 metaiodobenzylguanidine (MIBG) scan revealed multiple focal areas of increased uptake near the adrenal glands. After the preparation for operation, bilateral subtotal adrenalectomy including removal of the masses was performed. The diagnosis of bilateral pheochromocytoma was confirmed histologically and immunohistochemically. The patient remained asymptomatic with no laboratory or radiologic abnormalities for six years of follow-up. At the age of 16, the patient was referred to our clinic with visual defect in the left eye. Ophthalmologic examination led to the diagnosis of bilateral retinal hemangiomas, and he underwent laser photocoagulation. Positive family history with bilateral pheochromocytoma and retinal hemangioma revealed the diagnosis of VHL disease. Cerebral, spinal MRI and abdominal computed tomography (CT) were normal.
PatientID: Proband
KindredID: 1
Case: M, 10Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Mother was found with the same VHL germline variant. His mother presented with bilateral pheochromocytoma.
CasePresentingHPOs: HP:0002315; HP:0000651; HP:0002666; HP:0009711; HP:0000822 (Headache, Diplopia, Pheochromocytoma, Retinal capillary hemangioma, Hypertension)
CaseHPOFreeText: Admitted with complaints of headache and diplopia. MRI indicated the presence of multiple lesions in perivascular areas neighboring both adrenal glands. An iodine 123 metaiodobenzylguanidine (MIBG) scan revealed multiple focal areas of increased uptake near the adrenal glands. The diagnosis of bilateral pheochromocytoma was confirmed histologically and immunohistochemically. The patient remained asymptomatic with no laboratory or radiologic abnormalities for six years of follow-up. At the age of 16, the patient was referred to our clinic with a visual defect in the left eye. Ophthalmologic examination led to the diagnosis of bilateral retinal hemangiomas, and he underwent laser photocoagulation.
CaseNotHPOs: HP:0009713; HP:0006880 (Spinal hemangioblastoma, Cerebellar hemangioblastoma)
CaseNotHPOFreeText: Cerebral, spinal MRI and abdominal computed tomography (CT) were normal.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.R161Q (c.482G>A)
LegacyVariant: c.695G>A
CaseProblemVariantFreeText: N/A
ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/
CAID: N/A
gnomAD: N/A
VariantEvidence: Variant was reported as “c.695G>A” which was mapped to p.Arg161Gln (c.482G>A) in accordance with reference sequence NM_000551.3.
MutationType: missense_variant;transition
CivicName: R161Q (c.482G>A)
MultipleGeneVariants: N/A